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Link to original content: http://www.ncbi.nlm.nih.gov/omim/605841
Entry - %605841 - NARCOLEPSY 2, SUSCEPTIBILITY TO; NRCLP2 - OMIM

 
ICD+
% 605841

NARCOLEPSY 2, SUSCEPTIBILITY TO; NRCLP2


Cytogenetic location: 4p13-q21   Genomic coordinates (GRCh38) : 4:41,200,001-87,100,000


Gene-Phenotype Relationships
Location Phenotype Phenotype
MIM number 		Inheritance Phenotype
mapping key
4p13-q21 Narcolepsy 2 605841 2

▼ TEXT

For a phenotypic description and a discussion of genetic heterogeneity of narcolepsy, see 161400.

▼ Mapping

In a genomewide linkage search for narcolepsy in 8 Japanese families with 21 DR2-positive patients (14 narcoleptic cases with cataplexy and 7 with an incomplete form of narcolepsy), Nakayama et al. (2000) found a lod score of 3.09 at marker D4S2987 in the 4p13-q21 region.


▼ REFERENCES

  1. Nakayama, J., Miura, M., Honda, M., Miki, T., Honda, Y., Arinami, T. Linkage of human narcolepsy with HLA association to chromosome 4p13-q21. Genomics 65: 84-86, 2000. [PubMed: 10777671, related citations] [Full Text]


Creation Date:
Ada Hamosh : 4/11/2001
Edit History:
alopez : 09/13/2011
alopez : 9/12/2011
wwang : 3/8/2005
carol : 11/23/2004
carol : 11/23/2004
ckniffin : 11/23/2004
alopez : 3/19/2004
carol : 4/11/2001

% 605841

NARCOLEPSY 2, SUSCEPTIBILITY TO; NRCLP2


ORPHA: 2073;   DO: 8986;  


Cytogenetic location: 4p13-q21   Genomic coordinates (GRCh38) : 4:41,200,001-87,100,000


Gene-Phenotype Relationships

Location Phenotype Phenotype
MIM number 		Inheritance Phenotype
mapping key
4p13-q21 Narcolepsy 2 605841 2

TEXT

For a phenotypic description and a discussion of genetic heterogeneity of narcolepsy, see 161400.

Mapping

In a genomewide linkage search for narcolepsy in 8 Japanese families with 21 DR2-positive patients (14 narcoleptic cases with cataplexy and 7 with an incomplete form of narcolepsy), Nakayama et al. (2000) found a lod score of 3.09 at marker D4S2987 in the 4p13-q21 region.


REFERENCES

  1. Nakayama, J., Miura, M., Honda, M., Miki, T., Honda, Y., Arinami, T. Linkage of human narcolepsy with HLA association to chromosome 4p13-q21. Genomics 65: 84-86, 2000. [PubMed: 10777671] [Full Text: https://doi.org/10.1006/geno.2000.6143]


Creation Date:
Ada Hamosh : 4/11/2001

Edit History:
alopez : 09/13/2011
alopez : 9/12/2011
wwang : 3/8/2005
carol : 11/23/2004
carol : 11/23/2004
ckniffin : 11/23/2004
alopez : 3/19/2004
carol : 4/11/2001



NOTE: OMIM is intended for use primarily by physicians and other professionals concerned with genetic disorders, by genetics researchers, and by advanced students in science and medicine. While the OMIM database is open to the public, users seeking information about a personal medical or genetic condition are urged to consult with a qualified physician for diagnosis and for answers to personal questions.
OMIM® and Online Mendelian Inheritance in Man® are registered trademarks of the Johns Hopkins University.
Copyright® 1966-2024 Johns Hopkins University.

NOTE: OMIM is intended for use primarily by physicians and other professionals concerned with genetic disorders, by genetics researchers, and by advanced students in science and medicine. While the OMIM database is open to the public, users seeking information about a personal medical or genetic condition are urged to consult with a qualified physician for diagnosis and for answers to personal questions.
OMIM® and Online Mendelian Inheritance in Man® are registered trademarks of the Johns Hopkins University.
Copyright® 1966-2024 Johns Hopkins University.
Printed: Dec. 4, 2024